A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348991



Internal ID21006544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71125328..71126347hg38UCSC Ensembl
chr2:71352458..71353477hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381020
hg191020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089596
Samples
Known GenesMCEE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348991
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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